BETHESDA, MD. (April 25, 2025) — The umbilical cord may become a crystal ball of sorts, helping doctors predict the future of children at risk for long-term health problems, including diabetes, stroke, and liver disease. DNA changes found in cord blood could offer early clues about which infants are at higher risk — opening the door to earlier and potentially life-saving interventions, according to research to be presented at Digestive Disease Week® (DDW) 2025.
“We’re seeing kids develop metabolic problems earlier and earlier, which puts them at higher risk for serious complications as adults,” said lead author Ashley Jowell, MD, a resident physician in internal medicine at Duke University Health System. “If we can identify that risk at birth, we may be able to prevent it.”
Researchers used a new genetic tool to analyze umbilical cord blood from 38 children enrolled in the Newborn Epigenetics Study, a long-term birth cohort study based in North Carolina. They looked for changes in chemical tags — called methyl groups — on the infants’ DNA that switch genes on or off. When these switches occur in critical parts of the DNA, called imprint control regions, their effects can persist through fetal development and into later life.
The team compared the DNA changes to health data collected when the children were 7 to 12 years old — including body mass index, liver fat, an indication of liver inflammation or damage known as alanine transaminase (ALT), triglyceride levels, blood pressure, and waist-to-hip ratio. They identified multiple regions of altered DNA associated with metabolic dysfunction later in childhood. Changes in a gene called TNS3 were linked to liver fat, ALT, and waist-to-hip ratio, while alterations in others, including GNAS and CSMD1, were connected to blood pressure, waist-to-hip ratio, and ALT.
“These epigenetic signals are laid down during embryonic development, potentially influenced by environmental factors such as nutrition or maternal health during pregnancy,” said co-author Cynthia Moylan, MD, associate professor of medicine, division of gastroenterology, at Duke University Health System. “If validated in larger studies, this could open the door to new screening tools and early interventions for at-risk children.”
While the sample size was small, the researchers say the findings are promising and warrant further investigation. A larger National Health Institute-funded follow-up study is underway. The current findings do not suggest a direct cause-and-effect relationship between the genetic changes and disease but highlight a potential biological pathway for further research.
"Just because you're born with these markers doesn't mean disease is inevitable," Dr. Jowell said. "But knowing your risk earlier in life could help families and clinicians take proactive steps to support a child’s long-term health."
DDW Presentation Details
Dr. Jowell will present data from the study, “Identification of imprint control regions associated with clinically significant metabolic dysfunction in children,” abstract 324, at 8:15 a.m. PDT, Sunday, May 4. For more information about featured studies, as well as a schedule of availability for featured researchers, please visit www.ddw.org/press.
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Digestive Disease Week® (DDW) is the largest international gathering of physicians, researchers, and academics in the fields of gastroenterology, hepatology, endoscopy, and gastrointestinal surgery. Jointly sponsored by the American Association for the Study of Liver Diseases (AASLD), the American Gastroenterological Association (AGA), the American Society for Gastrointestinal Endoscopy (ASGE) and the Society for Surgery of the Alimentary Tract (SSAT), DDW is an in-person and online meeting from May 3-6, 2025. The meeting showcases nearly 6,000 abstracts and more than 1,000 lectures on the latest advances in GI research, medicine and technology. More information can be found at www.ddw.org